Generation of an induced pluripotent stem cell line (CIMAi001-A) from a compound heterozygous Primary Hyperoxaluria Type I (PH1) patient carrying p.G170R and p.R122* mutations in the AGXT gene


Primary Hyperoxaluria Type I (PH1) is a rare autosomal recessive metabolic disorder characterized by defects in enzymes involved in glyoxylate metabolism. PH1 is a life-threatening disease caused by the absence, deficiency or mistargeting of the hepatic alanine-glyoxylate aminotransferase (AGT) enzyme. A human induced pluripotent stem cell (iPSC) line was generated from dermal fibroblasts of a PH1 patient being compound heterozygous for the most common mutation c.508G>A (G170R), a mistargeting mutation, and c.364C>T (R122*), a previously reported nonsense mutation in AGTX. This iPSC line offers a useful resource to study the disease pathophysiology and a cell-based model for drug development. Copyright © 2019 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Martinez-Turrillas R, Rodriguez-Diaz S, Rodriguez-Marquez P, Martin-Mallo A, Salido E, Beck BB, Prosper F, Rodriguez-Madoz JR
Journal Stem cell research
Publication Date 2019 Dec;41:101626
PubMed 31715429
DOI 10.1016/j.scr.2019.101626

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